Clinical trials: Citrin Deficiency
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Urea Cycle Disorders, Inborn, Urea Cycle Disorders
Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD
Phase 1/2 Study of KRRO-121 is a randomized, placebo-controlled study in Healthy Volunteers (Phase 1 SAD and MAD) and Study Participants with Urea Cycle Disorders (Phase 2).
- Conditions
- Urea Cycle Disorders, Inborn, Urea Cycle Disorders, Ornithine Transcarbamylase (OTC) Deficiency, Arginase 1 Deficiency
- Trial name
- ANCHOR (NCT07773246)
- Testing
- KRRO-121
- Where
- Australia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Korro Bio, Inc.
Citrin Deficiency
Liver Metabolic Functions in Patients With Citrin Deficiency and Healthy Subjects
Citrin is an aspartate-glutamate transporter in the liver that facilitates the urea cycle pathway for ammonia detoxification via ureagenesis.
- Trial name
- NCT07055269
- Testing
- liver metabolic flux, ureagenesis capacity
- Where
- Switzerland
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Johannes Haeberle
Citrin Deficiency
Multi-omics Study in Citrin Deficiency
Citrin deficiency (CD) is an underdiagnosed and understudied condition characterized by several distinct phenotypes: 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), 2) the adaptation or silent period, 3)…
- Trial name
- NCT06895746
- Where
- 23 sites in United States, Japan and 3 more
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Johannes Haeberle